Gene Gene information from NCBI Gene database.
Entrez ID 55909
Gene name Bridging integrator 3
Gene symbol BIN3
Synonyms (NCBI Gene)
-
Chromosome 8
Chromosome location 8p21.3
Summary The product of this gene is a member of the BAR domain protein family. The encoded protein is comprised solely of a BAR domain which is predicted to form coiled-coil structures and proposed to mediate dimerization, sense and induce membrane curvature, and
miRNA miRNA information provided by mirtarbase database.
139
miRTarBase ID miRNA Experiments Reference
MIRT026045 hsa-miR-196a-5p Sequencing 20371350
MIRT027575 hsa-miR-98-5p Microarray 19088304
MIRT032138 hsa-let-7d-5p Sequencing 20371350
MIRT045640 hsa-miR-149-5p CLASH 23622248
MIRT821509 hsa-let-7a CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
22
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 18654987, 32296183, 33961781, 35271311
GO:0005737 Component Cytoplasm IEA
GO:0005856 Component Cytoskeleton IEA
GO:0006897 Process Endocytosis IBA
GO:0006897 Process Endocytosis IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
606396 1054 ENSG00000147439
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9NQY0
Protein name Bridging integrator 3
Protein function Involved in cytokinesis and septation where it has a role in the localization of F-actin.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03114 BAR 10 225 BAR domain Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed except in brain. {ECO:0000269|PubMed:11274158}.
Sequence
Sequence length 253
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
9
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
BREAST CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CATARACT GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Carcinogenesis Carcinogenesis Pubtator 36068491 Associate
★☆☆☆☆
Found in Text Mining only
Esophageal Neoplasms Esophageal neoplasm Pubtator 36475339 Associate
★☆☆☆☆
Found in Text Mining only
Glioblastoma Glioblastoma Pubtator 35915159 Associate
★☆☆☆☆
Found in Text Mining only
Parkinson Disease Parkinson disease GWASCAT_DG 28892059
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Parkinson Disease Parkinson disease BEFREE 30740124
★★☆☆☆
Found in Text Mining + Unknown/Other Associations